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Basic information of PTPRC :

Official Symbol of Gene PTPRC
Species Homo sapiens
Entrez Gene ID 5788
Official Full Name protein tyrosine phosphatase receptor type C
Also known as LCA; LY5; B220; CD45; L-CA; T200; CD45R; GP180; IMD105
Gene Type protein coding
dbXrefs Ensembl:ENSG00000081237 MIM:151460; AllianceGenome:HGNC:9666
Map Location 1q31.3-q32.1

Sample information of multiple sclerosis:

Detected Sample Peripheral blood
Sample Detail N/A
Detected Method PCR
Disease MS
Disease subtype N/A
Population German
Sample Size 347 controls /454 MS patients

Literature information of multiple sclerosis :

Pubmed ID 12028593
Year 2002
Title PTPRC (CD45) is not associated with multiple sclerosis in a large cohort of German patients

Results of multiple sclerosis :

Expression up-regulation
Risk type Disease risk
Result The 77C→G transition in exon 4 of the PTPRC gene may contribute to MS susceptibility only in very few families, if at all, but it is not relevant for the majority of MS cases, including virtually all German patients
Mechanism/Pathway alternative splicing of exons 4 (CD45RA), 5 (CD45RB) and 6 (CD45RC) (CD45RO, exons 4–6 spliced out). The 77C→G transition does not change the amino acid sequence, but it is probably part of a motif necessary for splicing leading to the isoform CD45RA